Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

Kaate R J Vanmolkot, Esther E. Kors, Jouke Jan Hottenga, Gisela M. Terwindt, Joost Haan, Wil A J Hoefnagels, David Black, Lodewijk A. Sandkuijl, Rune R. Frants, Michel D. Ferrari, Arn M J M Van den Maagdenberg

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Abstract

Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Cav2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na+,K+-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.

Original languageEnglish (US)
Pages (from-to)360-366
Number of pages7
JournalAnnals of neurology
Volume54
Issue number3
DOIs
StatePublished - Sep 1 2003

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Benign Neonatal Epilepsy
Migraine with Aura
Mutation
Genes
Epilepsy
Q-Type Calcium Channels
P-Type Calcium Channels
Chromosomes
sodium-translocating ATPase
Missense Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Vanmolkot, K. R. J., Kors, E. E., Hottenga, J. J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., ... Van den Maagdenberg, A. M. J. M. (2003). Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Annals of neurology, 54(3), 360-366. https://doi.org/10.1002/ana.10674

Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. / Vanmolkot, Kaate R J; Kors, Esther E.; Hottenga, Jouke Jan; Terwindt, Gisela M.; Haan, Joost; Hoefnagels, Wil A J; Black, David; Sandkuijl, Lodewijk A.; Frants, Rune R.; Ferrari, Michel D.; Van den Maagdenberg, Arn M J M.

In: Annals of neurology, Vol. 54, No. 3, 01.09.2003, p. 360-366.

Research output: Contribution to journalArticle

Vanmolkot, KRJ, Kors, EE, Hottenga, JJ, Terwindt, GM, Haan, J, Hoefnagels, WAJ, Black, D, Sandkuijl, LA, Frants, RR, Ferrari, MD & Van den Maagdenberg, AMJM 2003, 'Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions', Annals of neurology, vol. 54, no. 3, pp. 360-366. https://doi.org/10.1002/ana.10674
Vanmolkot, Kaate R J ; Kors, Esther E. ; Hottenga, Jouke Jan ; Terwindt, Gisela M. ; Haan, Joost ; Hoefnagels, Wil A J ; Black, David ; Sandkuijl, Lodewijk A. ; Frants, Rune R. ; Ferrari, Michel D. ; Van den Maagdenberg, Arn M J M. / Novel mutations in the Na+,K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. In: Annals of neurology. 2003 ; Vol. 54, No. 3. pp. 360-366.
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